esv2599243
- Organism: Homo sapiens
- Study:estd197 (McKernan et al. 2009)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:13,006
- Description:originalFile=Yoruban_large_indels_8.4x.gff
- Publication(s):McKernan et al. 2009
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 369 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 369 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 194 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2599243 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 114,937,108 | 114,950,113 |
| esv2599243 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 114,655,955 | 114,668,960 |
| esv2599243 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 116,138,645 | 116,151,650 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5379290 | Remapped | Perfect | NC_000003.12:g.(11 4937108_?)_(?_1149 50113)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 114,937,108 | 114,950,113 |
| essv5379290 | Remapped | Perfect | NC_000003.11:g.(11 4655955_?)_(?_1146 68960)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 114,655,955 | 114,668,960 |
| essv5379290 | Submitted genomic | NC_000003.10:g.(11 6138645_?)_(?_1161 51650)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 116,138,645 | 116,151,650 |